Canonical Allele Identifier: CA1139666441

Gene: RYR1

Linked Data

• ClinVar Variation Id: 947946
• ClinVar RCV Id: RCV001219102
• dbSNP Id: rs1973801119

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573179_38573180delinsTT , CM000681.2:g.38573179_38573180delinsTT	GRCh38
NC_000019.9:g.39063819_39063820delinsTT , CM000681.1:g.39063819_39063820delinsTT	GRCh37
NC_000019.8:g.43755659_43755660delinsTT	NCBI36
NG_008866.1:g.144480_144481delinsTT , LRG_766:g.144480_144481delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.937_938delinsTT
ENST00000688602.1:c.2334_2335delinsTT
ENST00000689936.1:c.2306_2307delinsTT
ENST00000359596.8:c.14001_14002delinsTT MANE Select	ENSP00000352608.2:p.Pro4668Ser
ENST00000355481.8:c.13986_13987delinsTT	ENSP00000347667.3:p.Pro4663Ser
ENST00000359596.7:c.14001_14002delinsTT	ENSP00000352608.2:p.Pro4668Ser
ENST00000360985.7:c.13983_13984delinsTT	ENSP00000354254.4:p.Pro4662Ser
NM_000540.2:c.14001_14002delinsTT , LRG_766t1:c.14001_14002delinsTT	NP_000531.2:p.Pro4668Ser
NM_001042723.1:c.13986_13987delinsTT	NP_001036188.1:p.Pro4663Ser
XM_006723317.1:c.13983_13984delinsTT	XP_006723380.1:p.Pro4662Ser
XM_006723319.1:c.13968_13969delinsTT	XP_006723382.1:p.Pro4657Ser
XM_011527204.1:c.13998_13999delinsTT	XP_011525506.1:p.Pro4667Ser
XM_011527205.1:c.13914_13915delinsTT	XP_011525507.1:p.Pro4639Ser
XM_006723317.2:c.13983_13984delinsTT	XP_006723380.1:p.Pro4662Ser
XM_006723319.2:c.13968_13969delinsTT	XP_006723382.1:p.Pro4657Ser
XM_011527205.2:c.13914_13915delinsTT	XP_011525507.1:p.Pro4639Ser
NM_000540.3:c.14001_14002delinsTT MANE Select	NP_000531.2:p.Pro4668Ser
NM_001042723.2:c.13986_13987delinsTT	NP_001036188.1:p.Pro4663Ser